Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10277
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Ubiquitination factor E4B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
UBE4B |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
E4, HDNB1, UBOX3, UFD2, UFD2A |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1p36.22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju |
UniProt ID |
O95155
|
Protein name |
Ubiquitin conjugation factor E4 B (EC 2.3.2.27) (Homozygously deleted in neuroblastoma 1) (RING-type E3 ubiquitin transferase E4 B) (Ubiquitin fusion degradation protein 2) |
Protein function |
Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by anot |
PDB |
2KRE
,
3L1X
,
3L1Z
,
5O75
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF10408
|
Ufd2P_core |
591 → 1212 |
Ubiquitin elongating factor core |
Family |
PF04564
|
U-box |
1228 → 1299 |
U-box domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highest expression in ovary, testis, heart and skeletal muscle (PubMed:11802788). Expression is low in colon, thymus and peripheral blood leukocytes (PubMed:118 |
Sequence |
|
Sequence length |
1302 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
29892015 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
29892015 |
ClinVar |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Carcinoma Hepatocellular |
Associate
|
36470669 |
Cardiomyopathies |
Associate
|
24454898 |
Charcot Marie Tooth Disease |
Associate
|
37595558 |
HAIR AN syndrome |
Associate
|
26673821 |
Leukemia Lymphoma Adult T Cell |
Associate
|
33362245 |
Myeloproliferative Disorder Chronic with Eosinophilia |
Associate
|
35996826 |
Neoplasm Metastasis |
Associate
|
37954063 |
Neoplasms |
Inhibit
|
15740626 |
Neoplasms |
Associate
|
36470669, 37954063 |
Neuroblastoma |
Associate
|
22990745, 31475882, 37957138 |
Peripheral Nervous System Diseases |
Associate
|
37595558 |
|